Postaxial acrofacial dysostosis

Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis (see this term) characterised by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital ray and ulnar hypoplasia.



Input patient's signs and symptoms


Narrow down the case reports



Total: 11 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(72.1%)		 18000904
 Acrofacial dysostosis syndrome type Rodriguez: prenatal diagnosis and autopsy findings.
Sermer D, Quercia N, Chong K, Chitayat D.
Am J Med Genet A. 2007;143A(24):3286-9.
Eyelid coloboma Phocomelia
rs387907186
Autopsy Bone and Bones Face Homo sapiens Infant, Newborn Limb Deformities, Congenital Male Mandibulofacial Dysostosis Syndrome
2
(57.8%)		 23913624
 Possible autosomal recessive inheritance in an infant with acrofacial dysostosis similar to Nager syndrome.
Nur BG, Bernier FP, Oztekin O, Kardelen F, Kalay S, Parboosingh JS, Mihci E.
Am J Med Genet A. 2013;161A(9):2311-5.
Micrognathia
SF3B4
Differential Diagnosis Facies Females Genes, Recessive Homo sapiens Infant Infant, Newborn Mandibulofacial Dysostosis Phenotype
2
(57.8%)		 17159508
 Microtia, severe micrognathia and absent ossicles: auriculo-condylar syndrome or new entity?
Nezarati MM, Aftimos S.
Clin Dysmorphol. 2007;16(1):9-13.
Micrognathia
Choanal Atresia Differential Diagnosis Homo sapiens Male Mandibulofacial Dysostosis Micrognathism
4
(45.4%)		 24303385
(3846201)
 A case report: nager acrofacial dysostosis.
Abdollahi Fakhim S, Shahidi N, Mousaviagdas M.
Iran J Otorhinolaryngol. 2012;24(66):45-50.
Retrognathia Absent soft palate
5
(39.6%)		 16523509
 A novel oculo-oto-facial dysplasia in a Native Alaskan community with autosomal recessive inheritance.
Hing AV, Leblond C, Sze RW, Starr JR, Monks S, Parisi MA.
Am J Med Genet A. 2006;140(8):804-12.
Lower eyelid coloboma
Adult Alaska Child Child, Preschool Eye Abnormalities Females Genes, Recessive Homo sapiens Infant Male X-Ray Computed Tomography
6
(33.5%)		 21346561
 Extra phenotypic features in a girl with Miller syndrome.
Al Kaissi A, Roetzer KM, Ulz P, Heitzer E, Klaushofer K, Grill F.
Clin Dysmorphol. 2011;20(2):66-72.
Cone-shaped epiphysis Postaxial polydactyly
DHODH
rs201230446
Child, Preschool Females Heterozygote Homo sapiens Leg Bones Limb Deformities, Congenital Mandibulofacial Dysostosis Micrognathism Missense Mutation Oxidoreductases Acting on CH-CH Group Donors Phenotype
7
(30.8%)		 8911600
 Blepharo-cheilo-dontic (BCD) syndrome.
Gorlin RJ, Zellweger H, Curtis MW, Wiedemann HR, Warburg M, Majewski F, Gillessen-Kaesbach G, Prahl-Andersen B, Zackai E.
Am J Med Genet. 1996;65(2):109-12.
Ectropion of lower eyelids
SEPTIN4
Child Child, Preschool Cleft Palate Ectropion Females Homo sapiens Infant Male Syndrome Tooth Abnormalities
7
(30.8%)		 8357564
 Miller postaxial acrofacial dysostosis. The phenotypic changes with age.
Chrzanowska K, Fryns JP.
Genet Couns. 1993;4(2):131-3.
Ectropion
Aging Craniofacial Dysostosis Follow-Up Studies Homo sapiens Infant Intellectual Disability Limb Deformities, Congenital Male Phenotype
9
(30.6%)		 8055139
 Postaxial acrofacial dysostosis syndrome with vertebral segmentation defects.
Medeira A, Donnai D.
Clin Dysmorphol. 1994;3(2):171-4.
Talipes equinovarus Vertebral segmentation defect
Face Fetus Hand Homo sapiens Male
10
(4.0%)		 2260569
 Acrofacial dysostosis with ambiguous genitalia.
Wulfsberg EA, Curtis J, Wiswell TE, Puntel RA, Levin SW.
Am J Med Genet. 1990;37(3):384-7.
Ambiguous genitalia
Craniofacial Dysostosis Homo sapiens Infant, Newborn Male Male Genital Organs Syndrome
        

Phenotype(s) retrieved from Orphanet

    Total: 20

HPO ID Term Frequency
HP:0000272 Malar flattening Very frequent (99-80%)
HP:0000347 Micrognathia Very frequent (99-80%)
HP:0000368 Low-set, posteriorly rotated ears Very frequent (99-80%)
HP:0000378 Cupped ear Very frequent (99-80%)
HP:0000494 Downslanted palpebral fissures Very frequent (99-80%)
HP:0000625 Eyelid coloboma Very frequent (99-80%)
HP:0002558 Supernumerary nipple Very frequent (99-80%)
HP:0002984 Hypoplasia of the radius Very frequent (99-80%)
HP:0003022 Hypoplasia of the ulna Very frequent (99-80%)
HP:0007477 Abnormal dermatoglyphics Very frequent (99-80%)
HP:0007651 Ectropion of lower eyelids Very frequent (99-80%)
HP:0008551 Microtia Very frequent (99-80%)
HP:0000175 Cleft palate Frequent (79-30%)
HP:0000370 Abnormality of the middle ear Frequent (79-30%)
HP:0000405 Conductive hearing impairment Frequent (79-30%)
HP:0002564 obsolete Malformation of the heart and great vessels Frequent (79-30%)
HP:0006101 Finger syndactyly Frequent (79-30%)
HP:0100335 Non-midline cleft lip Frequent (79-30%)
HP:0100490 Camptodactyly of finger Frequent (79-30%)
HP:0000486 Strabismus Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 3

HPO ID Term # of case reports
HP:0000062 Ambiguous genitalia 1
HP:0000347 Micrognathia 1
HP:0000625 Eyelid coloboma 1


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
DHODH dihydroorotate dehydrogenase (quinone) 1723